Canonical Allele Identifier: CA349523877

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM718211 ; COSM718212 ; COSM718213 ; COSM1148616
• MyVariant Identifiers: chr2:g.179463280C>T (hg19) ; chr2:g.178598553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598553C>T , CM000664.2:g.178598553C>T	GRCh38
NC_000002.11:g.179463280C>T , CM000664.1:g.179463280C>T	GRCh37
NC_000002.10:g.179171525C>T	NCBI36
NG_011618.3:g.237250G>A , LRG_391:g.237250G>A
NG_051363.1:g.80727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49360G>A (TTN)	ENSP00000343764.6:p.Gly16454Arg
ENST00000342175.11:c.30445G>A (TTN)	ENSP00000340554.6:p.Gly10149Arg
ENST00000359218.10:c.30244G>A (TTN)	ENSP00000352154.5:p.Gly10082Arg
ENST00000342175.10:c.30445G>A (TTN)	ENSP00000340554.6:p.Gly10149Arg
ENST00000342992.10:c.49360G>A (TTN)	ENSP00000343764.6:p.Gly16454Arg
ENST00000359218.9:c.30244G>A (TTN)	ENSP00000352154.5:p.Gly10082Arg
ENST00000460472.6:c.29869G>A (TTN)	ENSP00000434586.1:p.Gly9957Arg
ENST00000589042.5:c.57064G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly19022Arg
ENST00000591111.5:c.52141G>A (TTN)	ENSP00000465570.1:p.Gly17381Arg
ENST00000615779.4:c.52141G>A (TTN)	ENSP00000483597.1:p.Gly17381Arg
NM_001256850.1:c.52141G>A (TTN)	NP_001243779.1:p.Gly17381Arg
NM_001267550.2:c.57064G>A (TTN) MANE Select	NP_001254479.2:p.Gly19022Arg
NM_003319.4:c.29869G>A (TTN)	NP_003310.4:p.Gly9957Arg
NM_133378.4:c.49360G>A (TTN)	NP_596869.4:p.Gly16454Arg
NM_133432.3:c.30244G>A (TTN)	NP_597676.3:p.Gly10082Arg
NM_133437.4:c.30445G>A (TTN)	NP_597681.4:p.Gly10149Arg
NR_038271.1:n.682+872C>T (TTN-AS1)
NR_038272.1:n.3451-3C>T (TTN-AS1)
XM_011511729.1:c.56161G>A (TTN)	XP_011510031.1:p.Gly18721Arg
XM_011511730.1:c.30055G>A (TTN)	XP_011510032.1:p.Gly10019Arg
XM_011511731.1:c.29914G>A (TTN)	XP_011510033.1:p.Gly9972Arg
XM_017004819.1:c.55957G>A (TTN)	XP_016860308.1:p.Gly18653Arg
XM_017004820.1:c.51355G>A (TTN)	XP_016860309.1:p.Gly17119Arg
XM_017004821.1:c.51352G>A (TTN)	XP_016860310.1:p.Gly17118Arg
XM_017004822.1:c.48394G>A (TTN)	XP_016860311.1:p.Gly16132Arg
XM_017004823.1:c.30010G>A (TTN)	XP_016860312.1:p.Gly10004Arg
XM_024453094.1:c.51505G>A (TTN)	XP_024308862.1:p.Gly17169Arg
XM_024453095.1:c.51502G>A (TTN)	XP_024308863.1:p.Gly17168Arg
XM_024453096.1:c.50935G>A (TTN)	XP_024308864.1:p.Gly16979Arg
XM_024453097.1:c.48277G>A (TTN)	XP_024308865.1:p.Gly16093Arg
XM_024453098.1:c.48196G>A (TTN)	XP_024308866.1:p.Gly16066Arg
XM_024453099.1:c.29959G>A (TTN)	XP_024308867.1:p.Gly9987Arg
XM_024453100.1:c.19813G>A (TTN)	XP_024308868.1:p.Gly6605Arg